A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23532



Internal ID11040765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18117115..18179170hg38UCSC Ensembl
Innerchr11:18138662..18200717hg19UCSC Ensembl
Innerchr11:18095238..18157293hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3862056
hg1962056
hg1862056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11709, esv16635
SamplesNA12004, NA19190, NA18916, NA11993, NA06985, NA18523
Known GenesMRGPRX3, MRGPRX4
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv23532
Frequency
Sample Size40
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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